Amino Acids Bearing Aromatic or Heteroaromatic Substituents as a New Class of Ligands for the Lysosomal Sialic Acid Transporter Sialin

J Med Chem. 2020 Aug 13;63(15):8231-8249. doi: 10.1021/acs.jmedchem.9b02119. Epub 2020 Jul 15.

Abstract

Sialin, encoded by the SLC17A5 gene, is a lysosomal sialic acid transporter defective in Salla disease, a rare inherited leukodystrophy. It also enables metabolic incorporation of exogenous sialic acids, leading to autoantibodies against N-glycolylneuraminic acid in humans. Here, we identified a novel class of human sialin ligands by virtual screening and structure-activity relationship studies. The ligand scaffold is characterized by an amino acid backbone with a free carboxylate, an N-linked aromatic or heteroaromatic substituent, and a hydrophobic side chain. The most potent compound, 45 (LSP12-3129), inhibited N-acetylneuraminic acid 1 (Neu5Ac) transport in a non-competitive manner with IC50 ≈ 2.5 μM, a value 400-fold lower than the KM for Neu5Ac. In vitro and molecular docking studies attributed the non-competitive character to selective inhibitor binding to the Neu5Ac site in a cytosol-facing conformation. Moreover, compound 45 rescued the trafficking defect of the pathogenic mutant (R39C) causing Salla disease. This new class of cell-permeant inhibitors provides tools to investigate the physiological roles of sialin and help develop pharmacological chaperones for Salla disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acids / chemistry*
  • Amino Acids / metabolism*
  • Animals
  • Dose-Response Relationship, Drug
  • HEK293 Cells
  • HeLa Cells
  • Humans
  • Ligands
  • Lysosomes / metabolism*
  • Molecular Docking Simulation / methods
  • Organic Anion Transporters / metabolism*
  • Protein Structure, Secondary
  • Rats
  • Symporters / metabolism*

Substances

  • Amino Acids
  • Ligands
  • Organic Anion Transporters
  • Symporters
  • sialic acid transport proteins